Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion-Reference-Cited by-同舟云学术

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Published:2015-08-06 Issue:10 Volume:52 Page:691-698
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Yamada Kenichiro,Aiba Kaori,Kitaura Yasuyuki,Kondo Yusuke,Nomura Noriko,Nakamura Yuji,Fukushi Daisuke,Murayama Kei,Shimomura Yoshiharu,Pitt James,Yamaguchi Seiji,Yokochi Kenji,Wakamatsu Nobuaki

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Enzymatic reaction of crotonyl coenzyme A;Stern;J Am Chem Soc,1953

2. Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase;Kanazawa;Enzyme Protein,1993

3. The subunit structure of crotonase;Hass;J Biol Chem,1969

4. Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues;Fong;J Biol Chem,1977

5. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results;Wanders;J Inherit Metab Dis,2010

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